Results 161 to 170 of about 856,105 (317)

A rare case report: Tetralogy of Fallot, right aortic arch, isolated left subclavian from patent ductus arteriosus, neonatal aortopulmonary window, and hypoplastic right pulmonary arteryCentral Message

JTCVS Techniques, 2022
Nicholas Oh, MD, Tara Karamlou, MD, MSc, Robert Stewart, MD, Munir Ahmad, MD, John Lane, MD, C.R. Patel, MD, Hani K. Najm, MD, MSc   +6 more
doaj   +1 more source

Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC. [PDF]

J Community Genet
Senior BJ, Negri J, Camelo JL.
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Congenital Absence of the Left Atrial Appendage in Atrial Fibrillation With Gastrointestinal Bleeding. [PDF]

JACC Case Rep
Nashtar MA, Steinmetz M, Trippe J, Patsalis PC, Azizy O.   +4 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Adults with congenital heart disease: the patients' perspective.

Over the last 50 years technical and other advances have resulted in more than 90% of children born with congenital heart disease (CHD) surviving and reaching adulthood.
Lyon, Joy E.
core  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Humeroradioulnar Synostosis in a Patient with Underlying Congenital Scoliosis: A Case Report. [PDF]

J Orthop Case Rep
Small T, Kahwaty S, Stall A.
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Pediatric Lung Transplantation Following Non-Transplant Cardiac Surgery: A Contemporary Analysis. [PDF]

Lung
Koh W, Seo J, Jenkins T, Hayes D.
europepmc   +1 more source